Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ALK: R672S; rs1060500225

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: ALK: R672S

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: ALK: R672S; rs1060500225

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 7

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Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion.

Haematologica

Ohki, Kentaro K; Kiyokawa, Nobutaka N; Saito, Yuya Y; Hirabayashi, Shinsuke S; Nakabayashi, Kazuhiko K; Ichikawa, Hitoshi H; Momozawa, Yukihide Y; Okamura, Kohji K; Yoshimi, Ai A; Ogata-Kawata, Hiroko H; Sakamoto, Hiromi H; Kato, Motohiro M; Fukushima, Keitaro K; Hasegawa, Daisuke D; Fukushima, Hiroko H; Imai, Masako M; Kajiwara, Ryosuke R; Koike, Takashi T; Komori, Isao I; Matsui, Atsushi A; Mori, Makiko M; Moriwaki, Koichi K; Noguchi, Yasushi Y; Park, Myoung-Ja MJ; Ueda, Takahiro T; Yamamoto, Shohei S; Matsuda, Koichi K; Yoshida, Teruhiko T; Matsumoto, Kenji K; Hata, Kenichiro K; Kubo, Michiaki M; Matsubara, Yoichi Y; Takahashi, Hiroyuki H; Fukushima, Takashi T; Hayashi, Yasuhide Y; Koh, Katsuyoshi K; Manabe, Atsushi A; Ohara, Akira A; ,

Publication Date: 2019-01

Variant appearance in text: ALK: R672S

PubMed Link: 30171027

Variant Present in the following documents:

• 2017.186320.OHKI_SUPPL.pdf

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Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Bmc Cancer

Lu, Hongyang H; Yang, Shifeng S; Zhu, Huineng H; Tong, Xiaoling X; Xie, Fajun F; Qin, Jing J; Han, Na N; Wu, Xue X; Fan, Yun Y; Shao, Yang W YW; Mao, Weimin W

Publication Date: 2018-03-05

Variant appearance in text: ALK: R672S

PubMed Link: 29506494

Variant Present in the following documents:

• 12885_2018_4159_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page